8-9329732-A-G

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1

The ENST00000520390.1(PPP1R3B-DT):​n.766-2672A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.882 in 152,210 control chromosomes in the GnomAD database, including 59,468 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: 𝑓 0.88 ( 59468 hom., cov: 32)

Consequence

PPP1R3B-DT
ENST00000520390.1 intron

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -1.28
Variant links:
Genes affected
PPP1R3B-DT (HGNC:56150): (PPP1R3B divergent transcript)

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -12 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.88).
BA1
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.965 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE Protein UniProt
LOC157273NR_040039.1 linkn.766-2672A>G intron_variant

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt
PPP1R3B-DTENST00000518619.1 linkn.196+3429A>G intron_variant 3
PPP1R3B-DTENST00000520255.6 linkn.739+3429A>G intron_variant 3
PPP1R3B-DTENST00000520390.1 linkn.766-2672A>G intron_variant 2

Frequencies

GnomAD3 genomes
AF:
0.882
AC:
134196
AN:
152092
Hom.:
59441
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.878
Gnomad AMI
AF:
0.956
Gnomad AMR
AF:
0.790
Gnomad ASJ
AF:
0.940
Gnomad EAS
AF:
0.987
Gnomad SAS
AF:
0.889
Gnomad FIN
AF:
0.823
Gnomad MID
AF:
0.930
Gnomad NFE
AF:
0.902
Gnomad OTH
AF:
0.884
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.882
AC:
134276
AN:
152210
Hom.:
59468
Cov.:
32
AF XY:
0.878
AC XY:
65310
AN XY:
74400
show subpopulations
Gnomad4 AFR
AF:
0.878
Gnomad4 AMR
AF:
0.790
Gnomad4 ASJ
AF:
0.940
Gnomad4 EAS
AF:
0.987
Gnomad4 SAS
AF:
0.889
Gnomad4 FIN
AF:
0.823
Gnomad4 NFE
AF:
0.902
Gnomad4 OTH
AF:
0.879
Alfa
AF:
0.881
Hom.:
25191
Bravo
AF:
0.877
Asia WGS
AF:
0.924
AC:
3214
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.88
CADD
Benign
0.071
DANN
Benign
0.54

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs1461729; hg19: chr8-9187242; API